A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039192



Internal ID19128411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69455835..69509977hg38UCSC Ensembl
Innerchr14:69922552..69976694hg19UCSC Ensembl
Innerchr14:68992305..69046447hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3854143
hg1954143
hg1854143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1930n100
Supporting Variantsnssv3713521, nssv3713522, nssv3713520, nssv3531113, nssv3531112, nssv3531110, nssv3531111
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039192
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer